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3,326 results

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Page 1
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I. Xian J, et al. Brain. 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. Brain. 2022. PMID: 35190816 Free PMC article.
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Masnada S, Hedrich UBS, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K, King MD, Allen NM, Conroy J, Ben Zeev B, Tzadok M, Korff C, Dubois F, Ramsey K, Narayanan V, Serratosa JM, Giraldez BG, Helbig I, Marsh E, O'Brien M, Bergqvist CA, Binelli A, Porter B, Zaeyen E, Horovitz DD, Wolff M, Marjanovic D, Caglayan HS, Arslan M, Pena SDJ, Sisodiya SM, Balestrini S, Syrbe S, Veggiotti P, Lemke JR, Møller RS, Lerche H, Rubboli G. Masnada S, et al. Brain. 2017 Sep 1;140(9):2337-2354. doi: 10.1093/brain/awx184. Brain. 2017. PMID: 29050392 Free article.
Unification of Efforts to Improve Global Access to Cancer Therapeutics: Report From the 2022/2023 Access to Essential Cancer Medicines Stakeholder Summit.
Briercheck E, Pyle D, Adams C, Atun R, Booth C, Dent J, Garcia-Gonzalez P, Ilbawi A, Jazieh AR, Kerr D, Knaul F, Kobayashi E, Lim C, Maza M, Milner D, Navarro MF, O'Brien M, Rodriguez-Galindo C, Sullivan R, Torode J, Vokes E, Gralow J. Briercheck E, et al. Among authors: o brien m. JCO Glob Oncol. 2024 May;10:e2300256. doi: 10.1200/GO.23.00256. JCO Glob Oncol. 2024. PMID: 38781548
The impact of elder abuse training on subacute health providers and older adults: study protocol for a randomized control trial.
Cavuoto MG, Markusevska S, Stevens C, Reyes P, Renshaw G, Peters MDJ, Dow B, Feldman P, Gilbert A, Manias E, Mortimer D, Enticott J, Cooper C, Antoniades J, Appleton B, Nakrem S, O'Brien M, Ostaszkiewicz J, Eckert M, Durston C, Brijnath B. Cavuoto MG, et al. Among authors: o brien m. Trials. 2024 May 22;25(1):338. doi: 10.1186/s13063-024-08160-3. Trials. 2024. PMID: 38778386 Free PMC article.
Author Correction: A joint international consensus statement for measuring quality of survival for patients with childhood cancer.
van Kalsbeek RJ, Hudson MM, Mulder RL, Ehrhardt M, Green DM, Mulrooney DA, Hakkert J, den Hartogh J, Nijenhuis A, van Santen HM, Schouten-van Meeteren AYN, van Tinteren H, Verbruggen LC, Conklin HM, Jacola LM, Webster RT, Partanen M, Kollen WJW, Grootenhuis MA, Pieters R, Kremer LCM; International Childhood Cancer Outcome Project participants. van Kalsbeek RJ, et al. Nat Med. 2024 May 22. doi: 10.1038/s41591-024-03065-9. Online ahead of print. Nat Med. 2024. PMID: 38778213 No abstract available.
3,326 results